rs201650281, KARS1

N. diseases: 8
Source: ALL
Disease N. SNPs d DSI v DPI v Chr Position Consequence Alleles Class AFEXOME AFGENOME Score vda EI vda N. PMIDs First Ref. Last Ref.
Congenital sensorineural hearing loss
CUI: C1865866
Disease: Congenital sensorineural hearing loss
17 0.827 0.200 16 75635982 missense variant G/A snv 1.4E-04 1.3E-04 0.700 0
DEAFNESS, AUTOSOMAL RECESSIVE 89
CUI: C3151351
Disease: DEAFNESS, AUTOSOMAL RECESSIVE 89
3 0.827 0.200 16 75635982 missense variant G/A snv 1.4E-04 1.3E-04 0.700 0
Leukoaraiosis
CUI: C0948163
Disease: Leukoaraiosis
24 0.827 0.200 16 75635982 missense variant G/A snv 1.4E-04 1.3E-04 0.700 0
Optic Neuropathy
CUI: C3887709
Disease: Optic Neuropathy
8 0.827 0.200 16 75635982 missense variant G/A snv 1.4E-04 1.3E-04 0.700 0
Progressive cerebellar ataxia
CUI: C0393525
Disease: Progressive cerebellar ataxia
23 0.827 0.200 16 75635982 missense variant G/A snv 1.4E-04 1.3E-04 0.700 0
Pyramidal sign
CUI: C0234132
Disease: Pyramidal sign
10 0.827 0.200 16 75635982 missense variant G/A snv 1.4E-04 1.3E-04 0.700 0
Acidosis, Lactic
CUI: C0001125
Disease: Acidosis, Lactic
21 0.827 0.200 16 75635982 missense variant G/A snv 1.4E-04 1.3E-04 0.010 1.000 1 2018 2018
Sensorineural Hearing Loss (disorder)
CUI: C0018784
Disease: Sensorineural Hearing Loss (disorder)
111 0.827 0.200 16 75635982 missense variant G/A snv 1.4E-04 1.3E-04 0.010 1.000 1 2018 2018